3. Diagnosis of CHD Flashcards
1
Q
Cardiac tumor which is typically single, firm, intramural and involves ventricular free wall or septum?
A
Fibroma
2
Q
What is a common clinical manifestation of a fibroma?
A
Ventricular arrhythmias
Depend largely on location
3
Q
Most important initial step in management for ToF + Absent Pulmonary Valve?
A
RESPIRATORY SUPPORT!
-Aneurysmal PA dilation can compress bronchi
4
Q
What position should you place a baby with ToF + Absent Pulmonary valve in?
A
Prone - Helps PAs to fall forward and decompress bronchi
5
Q
What increases intensity of murmur in HCM?
A
Anything that increases gradient across dynamic outflow tract obstruction:
- Exercise
- Standing from squatting
- Straining (Valsalva)
- Systemic vasodilation (nitroglycerin or isoproterenol)
6
Q
What decreases intensity of murmur in HCM?
A
Anything that decreases gradient across dynamic outflow tract obstruction:
1. Systemic vasoconstriction (Phenylephrine)
7
Q
What defect do you expect to see in a baby delivered to Mom with PKU and elevated phenylalanine levels during pregnancy?
A
Left sided heart defects (HLHS, coarctation, ect)
-Also can see ToF, septal defects
8
Q
True or False: Degree of elevation of maternal serum phenylalanine level is predictive of CHD in fetus?
A
True
9
Q
FTT, supravalvar PS, supravalvar AS, elfin face, flared eyebrows, bright stellate irides, wide mouth… what syndrome?
A
Williams
10
Q
7q11 deletion
A
Williams syndrome
11
Q
11q23 deletion?
A
Jacobsen syndrome
12
Q
22q11.2 deletion?
A
DiGeorge/ Velocardiofacial syndrome
13
Q
1p36 and 8p23.1
A
No specific syndromes, but associated with CHD
14
Q
ASD + Missing thumb?
A
Holt-Oram
15
Q
Mutation in TBX5 gene?
A
Holt-Oram
16
Q
Inheritance pattern for Holt-Oram?
A
AD
-Caused by mutations of TBX5 gene
17
Q
Most common viral causes of myocarditis?
A
- Adenovirus
2. Enteroviruses (most commonly coxsackie)
18
Q
Most likely genetic syndrome in neonate with truncus?
A
DiGeorge
19
Q
DiGeorge syndrome has increased risk of what CHD?
A
Conotruncal
-IAA and Truncus
20
Q
Most common type of interrupted aortic arch in DiGeorge?
A
B
-Between second carotid and ipsilateral subclavian
21
Q
High frequency click immediately after S1 and heard best at apex?
A
Bicuspid AV
22
Q
Click + Suprasternal notch thrill in bicuspid aortic valve… where is stenosis likely located?
A
Valvular
Versus subvalvar or supravalvular
23
Q
Describe a PV ejection click
A
After S1, but with respiratory variation (louder with expiration)
24
Q
Describe MVP click
A
- Early systole with patient standing
- Later in systole with squatting or supine
25
Dark brown freckle like spots on body (increasing with age), sensorineural deafness, short stature, murmur, ECG with 1st degree AV block... what will you find on echo?
PS and LVH
LEOPARD syndrome
26
What does LEOPARD syndrome stand for?
```
Letigines
ECG conduction defects
Ocular hypertelorism
PS
Abnormal genitals
Retarded growth (subsequent short stature)
Deafness
```
27
How is LEOPARD syndrome inherited?
AD
28
What syndrome does LEOPARD share features with?
Noonan
29
PTPN11 and RAF1 mutations?
LEOPARD syndrome
30
What position do you expect a Still's murmur to increase in intesnity?
Supine
31
Indications for pericardiocentesis?
Clinical Tamponade:
1. Hypotension
2. Low CO
3. Pulsus paradoxus >10mmHg
4. Bacterial pericarditis
5. Immunocompromised hosts
6. Unclear etiology
32
What is pulsus paradoxus?
>10mmhg decrease in SBP during inspiration
(Normally SBP decreases by 4-6mmHg during inspiration due to decreased intrathoracic pressure and increased capacity of pulmonary venous bed)
33
Boy with recurrent sinusitis, dextrocardia, stomach bubble on right and bronchiectasis on CT?
Kartagener
34
How is Kartagener inheristed?
AR
35
Situs inversus, bronchiectasis, immotility of cilia in respiratory tract
Kartagener
36
Which syndrome has increased risk of infection secondary to T-cell dysfunction?
DiGeorge
37
Thrombocytopenia, eczema, immune deficiency?
Wiskott-Aldrich
38
How is Wiskott-Aldrich interited?
X-linked
39
How is Carney Complex inherited?
AD
40
Skin hyperpigmentation, endocrine overactivity, myxomas of skin and heart?
Carney Complex
41
What type of IAA is most common in AP septation defects?
A: Distal to L subclavian with severe coarctation
42
What type of IAA is seen in up to 1/3 of cases?
A
43
What type of IAA is seen most commonly in DiGeorge?
B: Between left carotid and left subclavian
44
How often is type C IAA seen?
<1%, very rare
C: Proximal to left carotid
45
True or False: Type D IAA is not compatible with life?
True
46
LAD on ECG in an infant?
1. AVCD (complete or partial)
2. Tricuspid atresia (+/- TGA)
*AVCD tend to have more superior axis (-60 to -100 degrees)
47
Differential for teen with persistent sinus tachycardia?
1. Hyperthyroidism
2. Substance abuse
3. Pheochromocytoma
4. Autonomic dysfunction
5. Tachyarrhythmia
48
Eating disorder patients commonly have what on ECG?
Bradycardia
49
Heat intolerance, sweating, palpitations, weigh loss, insomnia, irritability?
Hyperthyroidism
50
Episodic symptoms of sweating, HTN, tachycardia?
Pheochromocytoma
51
What condition can produce an autonomic neuropathy involving inappropriate tachycardia?
Diabetes
52
Major criteria for rheumatic fever?
1. Erythema marginatum: Erythematous, serpiginous, macular lesions with pale centers, not itchy
2. Carditis
3. Chorea
4. Polyarthritis
5. Subcutaneous nodules
53
Minor criteria for rheumatic fever?
1. Fever
2. Arthralgia
3. Prolongation on PR on ECG
4. Elevate acute phase reactants (CRP/ESR)
54
BP in legs lower than arms...
Coarctation
55
Low BP in RA and legs, but not LA...
Coarctation with aberrant right subclavian
56
Higher risk CHD for developing NEC?
1. HLHS
| 2. Truncus
57
Findings consistent with cardiac tamponade?
Beck's Triad:
1. Hypotension
2. Muffled/distant heart sounds
3. JVD
*Can also see tachycardia and pulsus paradoxus
58
Secondary causes of pericardial effusion?
- Rheumatic fever
- Lupus
- Renal failure
- Secondary to a lupus like reaction to medication (isoniazid or hydralazine)
- Hypothyroidism
59
ASD + Conduction abnormalities?
NKX2.5
-Chromosome 5q
60
Large ASD + Radial anomalies?
TBX5
| Holt Oram
61
MLL2?
Kabuki
62
JAG1?
Alagille
63
PTNP11?
Noonan
64
3/6 SEM at LUSB
Widely fixed split S2
Soft mid-diastolic rumble
ASD with large L-R shunt
65
With a diastolic rumble, Qp:Qs is at least what?
1.5:1 or higher
66
What ECG finding can be seen in a large ASD?
RAE (peaked P waves in II and V1)
67
What should be done for critical AS in a neonate?
Aortic valvuloplasty
68
What types of medication should not be given in critical AS?
Afterload reduction (milrinone, etc.)
69
Most common type of cardiac tumor in children (especially infants)?
Rhabdomyoma
70
Describe rhabdomyomas
- Well circumscribed
- Non-encapsulated
- Intramural or intracavitary
- Any location in heart, but most typically ventricles
- Can be single, but often see several in same patient
- Bright appearance on echo
71
Describe S2 in various degrees of AS
Mild-mod AS: Normal physiological splitting
Severe AS: May be single (due to prolongation of LV ejection time)
Extremely severe cases: May be paradoxial splitting
72
What type of cardiac tumor often presents with triad of cardiac obstruction (80%), embolism (70%) and systemic illness (60%)?
Myxoma
73
What cardiac tumors are often pedunculated and friable?
Myxoma
74
Where do myxomas typically occur?
- Most common: LA
- Attached to foramen ovale
- Either ventricle
75
Why should all patients with Marfan be referred to an opthalmologist?
To assess for ectopia lenti
76
What 2 cardiac lesions are the most at risk for developing high-grade AV block?
1. cc-TGA
| 2. Polysplenia (b/l L sidedness)
77
What do patients with cc-TGA need regular monitoring for?
Block... regular ECG and Holter
78
Why are patients with polysplenia at high risk for complete AV block?
Under-developed right sided structures including nodal/conduction tissue
79
Most common genetic diagnosis with polyvalvular dysplasia?
Trisomy 18
80
- Valvular developmental disorder that results in thickened leaflets with significant regurgitation and prolapse.
- Typically involves 2+ valves, but can involve all 4 valves of heart
Polyvalvular dysplasia
81
What % of patients with trisomy 18 have some form of valvular dysplasia?
90
82
Which genetic syndromes are associated with an increased incidence of partial anomalous pulmonary venous return?
Tuner
Noonan
*Visceral heterotaxy, polysplenia, asplenia and have high incidence of anomalous venous return
83
What forms of CHD are most commonly associated with WPW?
- HCM (Up to 10% may have pre-excitation)
| - Ebstein (20-30% will have WPW with PAD and pre-excitation suggesting right sided pathway)
84
3 signs there is worsening of PS
- Systolic murmur peaks later in systole
- Split of S2 sound widens (P2 sound delayed)
- Murmur spills over into diastole and S2 sound may become inaudible
85
What % of patients with Noonan have CHD?
Up to 85%
86
Most common CHD in Noonan?
- Pulmonary valvular stenosis
- ASD
- Partial AV canal
- Coarctation
- Hypertrophic cardiomyopathy
87
RV lift and a short SEM in a patient with Noonan?
Mild PS (likely due to a thickened PV)
88
Turner syndrome CHD?
Bicuspid AoV
| CoA
89
Williams syndrome CHD?
Supravalvar PS
| Supravalvar AS
90
Pulmonary branch stenosis?
Alagille
91
What benign murmur is heard best over the upper chest, changes with head position or compression of the jugular vein, varies with respiration and is often heard loudest in standing position?
Venous hum
92
Why does a murmur due to AS increase after a PVC?
Increased gradient across AoV due to enhanced diastolic filling during compensatory pause of PVC
93
What % of patients with Turner syndrome have CHD?
30%
*Guidelines for management of patients with Tuner advocate for routine screening with echo (even in absence of prior CHD)
94
What types of CHD are most common in Turner?
Left sided:
1. Bicuspid aortic valve most common (15%)
2. Coarctation (10%)
3. Rare mitral valve anomalies
4. HLHS (<5%)
95
What are 2 issues for patients with Turner as they get older?
Aortic root and ascending aorta dilation (risk of aortic dissection and sudden death)
96
CXR with bilateral rib notching and figure 3 sign upper chest?
CoA
97
What should be considered for intermittent HTN, flushing, tachycardia, sweating?
Pheochromocytoma
-Order urine metanephrines
98
Most common additional CHD in L-TGA?
VSD (80% of patients with L-TGA)
99
What is the most common locations for a VSD in L-TGA?
Perimembranous
| Subpulmonary
100
Besides VSD, what are 2 other problems seen in L-TGA?
1. LVOT obstruction (subpulmonary ventricular outflow tract) in 30-50% patients
2. Morphologic tricuspid valve dysplasia
101
Syncope while running, normal echo, uncle who died suddenly swimming with normal autopsy?
Long QT
102
5 day old with cyanosis, SpO2 70%, CXR with mildly increased pulmonary vascular markings, loud S2, no murmur, echo with side by side great arteries... diagnosis?
DORV with subpulmonic VSD and no PS (Taussig-Bing- DORV side-by-side and subpulmonary VSD)
- If VSD was subaortic, wouldn't have cyanosis
- If PS, normal to decreased pulmonary vascular markings
103
How is Alagille interited?
AD
104
Tirangular-shaped face, broad forehead, deep set eyes, butterfly vertebrae, paucity of bile ducts, may need liver transplant?
Alagille
105
Most common cardiac manifestations in Alagille?
Peripheral PS
| ToF
106
What are things that increase LVOTO murmur in HCM?
Exercise
Standing
Valsalva
Amyl nitrate (potent vasodilator)
107
What decreases intensity of a LVOTO murmur in HCM?
Handgrip
| Phenylephrine
108
What are findings that favor HCM over athletes heart?
1. Irregular hypertrophy (as opposed to pure concentric hypertrophy)
2. Normal sized LV diastolic dimensions
3. LA enlargement
4. Abnormal ECG
5. Abnormal LV diastolic function
6. FHx HCM
7. Female
109
What can be done to distinguish athletes heart from HCM?
Deconditioning test
-LV thickness will resolve in someone with athletes heart
110
What should be considered with dilated cardiomyopathy in a child from South America?
Chagas
111
What is a cardiac complication of Chagas (Trypanosoma Cruzi)?
Severe form of myocarditis
112
Where is Chagas disease endemic?
Latin and South America
*Rarely seen in US except for recent immigrants
113
How to differentiate between restrictive cardiomyopathy and constrictive pericarditis?
- Restrictive cardiomyopathy: Atria are markedly enlarged, RVSP >50mmHg, rarely show changes in Doppler flow velocities with inspiration and expiration
- Constrictive pericarditis: Septal bounce, equal RVEDP and LVEDP and normal PVRi
114
Describe the MR murmur associated with rheumatic heart disease
- High pitched
- Holosystolic
- Heard best at apex radiating to left axilla
- Heard best at end of expiration with patient lying in left lateral decubitus position
115
Infant with low birth weight, hypotonia, microcephaly, hypertelorism, epicanthal folds with down-slanting palpebral fissures, flat nasal bridge, micrognathia, single palmar creases and a high pitched cry?
Cri-du-chat (Lejeune)
116
What causes Cri-du-chat?
Deletion of the short arm of chromosome 5 (5p-)
117
What is the most common cardiac manifestations of Cri-du-chat?
VSD
ASD
PDA
ToF
118
Major criteria for rheumatic fever?
1. Erythema marginatum
2. Carditis
3. Chorea
4. Polyarthritis
5. Subcutaneous nodules
119
Minor criteria for rheumatic fever?
1. Fever
2. Arthralgias
3. Prolongation of PR interval on ECG
4. Elevated acute phase reactants (CRP and ESR)
120
What are the 3 most common manifestations of rheumatic fever?
1. Migratory polyarthritis (40-70%)
2. Carditis (30-60%)
3. Chorea (10-30%)
*Derm findings occur in <10% of patients each
121
What population is Ellis-van Creveld syndrome most commonly seen in?
Pennsylvania Amish
122
Skeletal and ectodermal dysplasias, short stature, short limbs, hypoplastic or dysplastic fingernails, postaxial polydactyly and neonatal or small teeth?
Ellis-van Creveld
123
What causes Ellis-van Creveld?
Mutations in the EVC and EVC2 genes on chromosome 4
124
What is the most common CHD in Ellis-van Creveld?
Large ASD or common atrium
*Over half have CHD
125
What are common training-related ECG findings?
1. Sinus bradycardia
2. 1st degree AV block
3. Incomplete RBBB
4. Early repolarization
5. Isolated QRS voltage criteria for LVH (10-40% of high school/college athletes can meet voltage criteria for LVH with normal echo)
126
Characteristic cardiac tumor in tuberous sclerosis?
Rhabdomyoma
127
Natural course for rhabdomyomas associated with tuberous sclerosis?
- Usually resolve without intervention
- Most patients asymptomatic, but can have obstruction if tumor is large
- Can surgically excise if hemodynamic compromise or arrhythmia due to rhabdomyomas
128
What is most commonly identified genetic cause of ToF?
22q11. 2 (20%)
| * Most cases of ToF don't have an identifiable cause
129
If ToF is due to 22q11.2, what is inheritance pattern?
AD
*Up to 10% familial with variable expressivity and incomplete penetrance
*Most mutations are de novo
130
Most common vascular ring to cause symptoms in first few months of life?
Double aortic arch
*Earlier if both arches are widely patent and later if one of the arches is hypoplastic
131
True or False: Patients with retroesophageal left subclavian artery with right aortic arch don’t have a technical vascular ring and rarely require treatment
True
132
What is the most common arch anomaly?
Retroesophageal right subclavian artery with left aortic arch (0.5% of population)
*Doesn't commonly cause symptoms in infancy
133
What results in an anterior indentation of the esophagus on barium swallow?
LPA sling
134
How does an LPA sling present?
Respiratory distress and stridor in first few years of life
135
What arch anomaly is extremely rare and may present incidentally on an imaging study, incidentally in conjunction with other CHD, or a pattern similar to coarctation?
Persistent 5th aortic arch
136
When is a typical friction rub the loudest?
When heart is closest to the chest wall (patient leaning forward, kneeling, inspiring)
137
True or False: Absence of a friction rub doesn't exclude pericarditis?
True
*Especially with large effusion
138
Developmental delay, wide-spaced eyes, ptosis, small ears, short stature, thrombocytopenia (tendency for life-threatening hemorrhages)?
Jacobsen syndrome
139
Deletion in Jacobsen syndrome?
11q23
140
What types of CHD are seen in Jacobsen syndrome?
VSD
Left sided lesions (mitral valve and aortic valve
Other forms
141
Most common cardiac defects in patients with congenital rubella?
PS
PDA
*May also present with VSD or ToF
142
Describe the click associated with MVP
- Murmur (late systolic at apex) typically preceded by click
- Click heard in early to midsystole with patient standing
- Click heard later in systole with squatting or supine position
143
Describe the click associated with bicuspid aortic valve
Aortic ejection clock most often early in systole after S1
144
Describe a pulmonary valve ejection click
- Happens with respiratory variation
| - Louder with expiration
145
What phase of the cardiac cycle is a rub heard in?
Systole and diastole
146
What chromosomal abnormality has the highest incidence of CHD?
Trisomy 18
*Up to 95% have some form CHD (polyvalvular dysplasia, VSD, ToF/DORV, AVSD)
147
Patients with Down Syndrome have what % chance of CHD?
40%
148
Patients with Turner syndrome have what % chance of CHD?
25%
149
Patients with 22q11 have what % chance of CHD?
80%
150
Patients with 5p- (Cri-du-chat) have what % chance of CHD?
20%
151
What % of patients with IAA-B have a 22q11.2 delection?
At least 50
152
Patients with truncus, isolated arch anomalies, ToF and perimembranous VSD have what % chances of having 22q11, respectivey?
- 35% of truncus
- 24% isolated arch anomalies
- 15% ToF
- 10% perimembranous VSD
153
Most common causes of SCD in athletes in the US?
- HCM: 44%
- Coronary artery anomalies: 17%
- Myocarditis: 6%
- Ion channelopathies: 3%
154
4-extremity BPs: RL: 40/25, LL: 42/22, RA: 48/27, LA: 72/35
Infant is ill with ventricular hypertrophy and abnormal arch, what is most likely diagnosis?
CoA with aberrant R subclavian
* CoA: Leg BP lower than arm BP
* Low BP in RA but not LA suggests that right subclavian artery originates distal to coarctation
155
Retinoic acid use early in pregnancy is associated with that category of CHD?
Conotruncal defects
*Extracardiac defects also common
156
Causes of significant flow reversal in the descending aorta?
- Large PDA
- Severe AI
- Intracranial AVM (vein of Galen malformation)
- Large LV-Ao tunnel (arises above right sinus of valsalva)
